ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3890C>T (p.Ala1297Val) (rs747436583)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000167990 SCV000218640 uncertain significance Autosomal recessive polycystic kidney disease 2014-10-02 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 1297 of the PKHD1 protein (p.Ala1297Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This sequence change has not been published in the literature and is not present in population databases. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this sequence change is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this is a novel missense change that is not predicted to affect protein function or cause disease. However the evidence is insufficient at this time to prove that conclusively. It has been classified as a Variant of Uncertain Significance.

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